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| Gene | RAD51C |
| Variant | L27P |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | RAD51C L27P lies within the region of the Rad51c protein required for Holliday junction resolution activity (UniProt.org). L27P binds to Rad51b, Rad51d, and Xrcc3 to similar levels as wild-type protein in a yeast assay, however, results in reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300), and therefore, is predicted to lead to a loss of Rad51c protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C L27P |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58692723T>C |
| cDNA | c.80T>C |
| Protein | p.L27P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722002.5 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| XM_047436505.1 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| NM_002876.3 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| NM_002876.4 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58692723T>C | c.80T>C | p.L27P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| RAD51C L27P | loss of function - predicted | Olaparib |